Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Haploinsufficiency

Haploinsufficiency is the development of a phenotype with a heterozygous mutation. Depending on the mutation the severity of the phenotype can vary, but is is usually less pronounced than in a homozygous state.

 

The site uses cookies to ensure the best possible service. Please confirm with a click that you agree with the use of cookies: